Incidental Mutation 'IGL00778:Nsmaf'
| ID |
12790 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nsmaf
|
| Ensembl Gene |
ENSMUSG00000028245 |
| Gene Name |
neutral sphingomyelinase (N-SMase) activation associated factor |
| Synonyms |
Fan, factor associated with N-SMase activation |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL00778
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
6396207-6454271 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 6435056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029910]
[ENSMUST00000029910]
[ENSMUST00000124344]
|
| AlphaFold |
O35242 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029910
|
| SMART Domains |
Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
28 |
N/A |
INTRINSIC |
|
GRAM
|
176 |
247 |
2.22e-11 |
SMART |
|
Beach
|
302 |
575 |
6.28e-190 |
SMART |
|
WD40
|
622 |
661 |
4.55e-3 |
SMART |
|
WD40
|
664 |
703 |
2.97e0 |
SMART |
|
WD40
|
706 |
743 |
1.47e-6 |
SMART |
|
WD40
|
756 |
794 |
1.7e-2 |
SMART |
|
WD40
|
797 |
836 |
1.02e-5 |
SMART |
|
WD40
|
839 |
875 |
9.55e0 |
SMART |
|
WD40
|
878 |
917 |
1.5e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000029910
|
| SMART Domains |
Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
28 |
N/A |
INTRINSIC |
|
GRAM
|
176 |
247 |
2.22e-11 |
SMART |
|
Beach
|
302 |
575 |
6.28e-190 |
SMART |
|
WD40
|
622 |
661 |
4.55e-3 |
SMART |
|
WD40
|
664 |
703 |
2.97e0 |
SMART |
|
WD40
|
706 |
743 |
1.47e-6 |
SMART |
|
WD40
|
756 |
794 |
1.7e-2 |
SMART |
|
WD40
|
797 |
836 |
1.02e-5 |
SMART |
|
WD40
|
839 |
875 |
9.55e0 |
SMART |
|
WD40
|
878 |
917 |
1.5e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124344
|
| SMART Domains |
Protein: ENSMUSP00000120980
Gene: ENSMUSG00000028245
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156283
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156715
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation show no gross phenotypic abnormalities but display delayed cutaneous barrier repair. In addition, D-galactosamine-sensitized homozygotes are partially resistant to LPS- and TNF-induced lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
G |
A |
14: 44,401,391 (GRCm39) |
H152Y |
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,086,132 (GRCm39) |
D457G |
probably benign |
Het |
| Atp8a1 |
T |
G |
5: 67,817,246 (GRCm39) |
K913N |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,841,917 (GRCm39) |
S321N |
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,363,470 (GRCm39) |
N264D |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,387,109 (GRCm39) |
C1724S |
probably benign |
Het |
| Chil4 |
A |
G |
3: 106,109,113 (GRCm39) |
S397P |
probably benign |
Het |
| Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
| Csgalnact2 |
A |
T |
6: 118,103,233 (GRCm39) |
M1K |
probably null |
Het |
| Enpp3 |
C |
A |
10: 24,674,160 (GRCm39) |
C380F |
probably damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,266,546 (GRCm39) |
R967W |
probably damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,066,856 (GRCm39) |
D472E |
unknown |
Het |
| Klhl28 |
A |
T |
12: 64,996,840 (GRCm39) |
D500E |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,148,321 (GRCm39) |
|
probably benign |
Het |
| Mphosph8 |
A |
G |
14: 56,911,900 (GRCm39) |
I308V |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,190,868 (GRCm39) |
|
probably null |
Het |
| Padi6 |
T |
A |
4: 140,454,934 (GRCm39) |
I668L |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,768,150 (GRCm39) |
I393T |
possibly damaging |
Het |
| Prg3 |
G |
A |
2: 84,824,076 (GRCm39) |
C212Y |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,715,752 (GRCm39) |
V267A |
probably benign |
Het |
| Raver2 |
C |
A |
4: 100,953,468 (GRCm39) |
Q79K |
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,745,697 (GRCm39) |
S270P |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,406,818 (GRCm39) |
E39G |
probably damaging |
Het |
| Strada |
A |
G |
11: 106,061,976 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,855,500 (GRCm39) |
|
probably benign |
Het |
| Zic3 |
A |
G |
X: 57,079,779 (GRCm39) |
Y424C |
probably damaging |
Het |
|
| Other mutations in Nsmaf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00697:Nsmaf
|
APN |
4 |
6,417,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01775:Nsmaf
|
APN |
4 |
6,396,791 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02003:Nsmaf
|
APN |
4 |
6,418,522 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02039:Nsmaf
|
APN |
4 |
6,424,995 (GRCm39) |
splice site |
probably benign |
|
|
IGL02085:Nsmaf
|
APN |
4 |
6,398,551 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02252:Nsmaf
|
APN |
4 |
6,398,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02655:Nsmaf
|
APN |
4 |
6,424,933 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0023:Nsmaf
|
UTSW |
4 |
6,408,680 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0454:Nsmaf
|
UTSW |
4 |
6,424,874 (GRCm39) |
splice site |
probably null |
|
|
R0538:Nsmaf
|
UTSW |
4 |
6,419,930 (GRCm39) |
splice site |
probably null |
|
|
R0605:Nsmaf
|
UTSW |
4 |
6,418,470 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1033:Nsmaf
|
UTSW |
4 |
6,438,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Nsmaf
|
UTSW |
4 |
6,423,448 (GRCm39) |
nonsense |
probably null |
|
|
R1519:Nsmaf
|
UTSW |
4 |
6,438,062 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1641:Nsmaf
|
UTSW |
4 |
6,409,884 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1668:Nsmaf
|
UTSW |
4 |
6,398,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2212:Nsmaf
|
UTSW |
4 |
6,396,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2351:Nsmaf
|
UTSW |
4 |
6,437,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3862:Nsmaf
|
UTSW |
4 |
6,435,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4112:Nsmaf
|
UTSW |
4 |
6,417,188 (GRCm39) |
nonsense |
probably null |
|
|
R4644:Nsmaf
|
UTSW |
4 |
6,419,940 (GRCm39) |
splice site |
probably benign |
|
|
R4807:Nsmaf
|
UTSW |
4 |
6,398,542 (GRCm39) |
splice site |
probably null |
|
|
R4960:Nsmaf
|
UTSW |
4 |
6,423,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5556:Nsmaf
|
UTSW |
4 |
6,398,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5936:Nsmaf
|
UTSW |
4 |
6,421,017 (GRCm39) |
intron |
probably benign |
|
|
R7288:Nsmaf
|
UTSW |
4 |
6,416,641 (GRCm39) |
missense |
probably benign |
|
|
R7295:Nsmaf
|
UTSW |
4 |
6,438,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7378:Nsmaf
|
UTSW |
4 |
6,416,586 (GRCm39) |
missense |
probably benign |
|
|
R7615:Nsmaf
|
UTSW |
4 |
6,408,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Nsmaf
|
UTSW |
4 |
6,435,109 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7993:Nsmaf
|
UTSW |
4 |
6,398,647 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8737:Nsmaf
|
UTSW |
4 |
6,396,748 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8856:Nsmaf
|
UTSW |
4 |
6,433,320 (GRCm39) |
nonsense |
probably null |
|
|
R8905:Nsmaf
|
UTSW |
4 |
6,424,951 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8963:Nsmaf
|
UTSW |
4 |
6,428,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9019:Nsmaf
|
UTSW |
4 |
6,418,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9097:Nsmaf
|
UTSW |
4 |
6,416,543 (GRCm39) |
frame shift |
probably null |
|
|
R9099:Nsmaf
|
UTSW |
4 |
6,416,543 (GRCm39) |
frame shift |
probably null |
|
|
R9288:Nsmaf
|
UTSW |
4 |
6,414,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9328:Nsmaf
|
UTSW |
4 |
6,426,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Nsmaf
|
UTSW |
4 |
6,440,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9481:Nsmaf
|
UTSW |
4 |
6,414,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9556:Nsmaf
|
UTSW |
4 |
6,408,637 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9745:Nsmaf
|
UTSW |
4 |
6,416,662 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
X0021:Nsmaf
|
UTSW |
4 |
6,398,543 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0063:Nsmaf
|
UTSW |
4 |
6,414,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation